Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23328 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
SAM and SH3 domain containing 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SASH1 |
SynonymsGene synonyms aliases
|
CAPOK, DUH, DUH1, SH3D6A, dJ323M4.1 |
ChromosomeChromosome number
|
6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6q24.3-q25.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppresso |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs587781245 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs1237876014 |
A>C,G |
Pathogenic |
Missense variant, coding sequence variant |
rs1562489143 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
rs1562489156 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1562489165 |
->AAGT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1562489224 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs1562489240 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1562490566 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant |
rs1562491501 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
O94885 |
Protein name |
SAM and SH3 domain-containing protein 1 (Proline-glutamate repeat-containing protein) |
Protein function |
Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubM |
PDB |
2DL0
,
2EBP
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12485 |
SLY |
401 → 555 |
Lymphocyte signaling adaptor protein |
Family |
PF07653 |
SH3_2 |
558 → 613 |
Variant SH3 domain |
Domain |
PF00536 |
SAM_1 |
633 → 695 |
SAM domain (Sterile alpha motif) |
Domain |
PF07647 |
SAM_2 |
1174 → 1239 |
SAM domain (Sterile alpha motif) |
Domain |
|
Sequence |
|
Sequence length |
1247 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Carcinoma |
Squamous cell carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
|
Dyschromatosis universalis hereditaria |
Dyschromatosis Universalis Hereditaria 1 |
rs397514756, rs397514757, rs397514758, rs796065353, rs1562490566, rs1562489224, rs1562489156, rs1562489240, rs1562489165, rs1562489143 |
27885802, 26203640, 27659786, 23333244, 27840890, 29956681 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
27903959 |
Palmoplantar keratoderma |
Keratoderma, Palmoplantar |
rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Alopecia |
Alopecia |
|
|
Diabetic nephropathy |
Diabetic Nephropathy |
|
21150874 |
Dyschromatosis |
Dyschromatosis |
|
|
Lentiginosis profusa |
Lentiginosis Profusa |
|
26203640 |
Multinodular goiter |
Multinodular goiter |
|
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Nail dystrophy |
Dystrophia unguium |
|
|
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
|
|
Rotator cuff syndrome |
Rotator cuff syndrome |
|
26350878 |
|